关键词: 慢性阻塞性肺疾病, 遗传易感性, 线粒体DNA, 单倍型

Abstract: Objective To explore the relevance between peripheral leukocytes mtDNA haplogroups and the occurrence of COPD. Methods 60 COPD patients and 45 healthy controls were recruited from Taihe Hospital. MtDNA HVS (hypervariable) region and 10171-10659 regions were cloned and sequenced. Mutation sites were analyzed via aligning the target gene sequence with the rCRS (revised Cambridge reference sequence) of mtDNA. Samples were divided into possible haplogroups according to mtDNA haplogroup classification tree of Han population. Results Both COPD group and control group were divided into 9 kinds of haplogroups, such as A, F and M7. A haplogroup has a higher proportion in COPD group than control group (P<0.05), while F haplogroup has a higher proportion in the control group than COPD group (P<0.05). Conclusions F haplogroup might reduce the COPD risk, while A haplogroup might be risk factor for COPD. The occurrence and development of COPD might be related to mtDNA haplotype mutation.

Key words: Chronic obstructive pulmonary disease, Genetic susceptibility, Mitochondria DNA, Haplogroup